ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2078G>A (p.Arg693His)

gnomAD frequency: 0.00005  dbSNP: rs770897966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004081731 SCV003530140 uncertain significance not specified 2022-06-21 criteria provided, single submitter clinical testing The c.2078G>A (p.R693H) alteration is located in exon 6 (coding exon 6) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 2078, causing the arginine (R) at amino acid position 693 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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